Virginie Vignard

The paper identifies de novo variants in PCBP1 causing neurodevelopmental disorders, showing impaired dendritic arborization and increased exon skipping in T cells.

The paper identifies a female-specific neurodevelopmental disorder caused by biallelic CIZ1 loss-of-function variants, which disrupt X-chromosome inactivation maintenance.

The paper identifies PSMC5 variants causing neurodevelopmental disorders and shows their impact on neuronal function and immune signaling, suggesting therapeutic targets.

This study identifies NET1/ARHGEF8 as a mechanosensitive RhoGEF that regulates vascular smooth muscle cell contractility and adhesion in response to cyclic stretch.

The paper reports a cohort of 35 individuals with CUL3 variants causing a syndromic neurodevelopmental disorder, showing loss-of-function variants disrupt protein homeostasis by impairing proteasomal degradation of CUL3 substrates.